The SCFFBW7 ubiquitin ligase complex as a tumor suppressor in T cell leukemia

J Exp Med. 2007 Aug 6;204(8):1825-35. doi: 10.1084/jem.20070872. Epub 2007 Jul 23.

Abstract

Recent studies have shown that activating mutations of NOTCH1 are responsible for the majority of T cell acute lymphoblastic leukemia (T-ALL) cases. Most of these mutations truncate its C-terminal domain, a region that is important for the NOTCH1 proteasome-mediated degradation. We report that the E3 ligase FBW7 targets NOTCH1 for ubiquitination and degradation. Our studies map in detail the amino acid degron sequence required for NOTCH1-FBW7 interaction. Furthermore, we identify inactivating FBW7 mutations in a large fraction of human T-ALL lines and primary leukemias. These mutations abrogate the binding of FBW7 not only to NOTCH1 but also to the two other characterized targets, c-Myc and cyclin E. The majority of the FBW7 mutations were present during relapse, and they were associated with NOTCH1 HD mutations. Interestingly, most of the T-ALL lines harboring FBW7 mutations were resistant to gamma-secretase inhibitor treatment and this resistance appeared to be related to the stabilization of the c-Myc protein. Our data suggest that FBW7 is a novel tumor suppressor in T cell leukemia, and implicate the loss of FBW7 function as a potential mechanism of drug resistance in T-ALL.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amyloid Precursor Protein Secretases / antagonists & inhibitors
  • Cell Cycle Proteins / metabolism*
  • F-Box Proteins / metabolism*
  • F-Box-WD Repeat-Containing Protein 7
  • Gene Expression Regulation, Neoplastic*
  • Genes, Tumor Suppressor
  • Humans
  • Leukemia, T-Cell / enzymology*
  • Leukemia, T-Cell / genetics*
  • Leukemia, T-Cell / metabolism*
  • Microscopy, Fluorescence
  • Mutation
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma / genetics*
  • Protein Binding
  • Protein Structure, Tertiary
  • Proto-Oncogene Proteins c-myc / metabolism
  • Receptor, Notch1 / metabolism
  • Stem Cell Factor / metabolism*
  • Ubiquitin-Protein Ligases / biosynthesis*
  • Ubiquitin-Protein Ligases / genetics*
  • Ubiquitin-Protein Ligases / metabolism

Substances

  • Cell Cycle Proteins
  • F-Box Proteins
  • F-Box-WD Repeat-Containing Protein 7
  • FBXW7 protein, human
  • NOTCH1 protein, human
  • Proto-Oncogene Proteins c-myc
  • Receptor, Notch1
  • Stem Cell Factor
  • Ubiquitin-Protein Ligases
  • Amyloid Precursor Protein Secretases